Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Nbn'

225340

Institutional Source

Beutler Lab

Gene Symbol

Nbn

Ensembl Gene

ENSMUSG00000028224

Gene Name

nibrin

Synonyms

Nbs1

MMRRC Submission

040014-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15957925-15992589 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15979351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 445 (D445E)

Ref Sequence

ENSEMBL: ENSMUSP00000120829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029879] [ENSMUST00000149069]

AlphaFold

Q9R207

Predicted Effect

probably benign
Transcript: ENSMUST00000029879
AA Change: D445E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000029879
Gene: ENSMUSG00000028224
AA Change: D445E

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
FHA	23	83	2.27e-4	SMART
BRCT	103	184	6.37e0	SMART
Pfam:NIBRIN_BRCT_II	216	325	2.2e-34	PFAM
low complexity region	557	565	N/A	INTRINSIC
Nbs1_C	680	744	2.14e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149069
AA Change: D445E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120829
Gene: ENSMUSG00000028224
AA Change: D445E

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
FHA	23	83	2.27e-4	SMART
BRCT	103	184	6.37e0	SMART
PDB:2K2W\|A	217	326	3e-32	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutations exhibit phenotypes ranging from impaired extraembryonic tissue growth and early embryonic death to growth retardation, lymphoid defects, lymphoma susceptibility, and failure of oogenesis. Null heterozygotes are cancer prone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,877,827	A961V	probably benign	Het
Adcy10	A	G	1: 165,525,022	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,111,718	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,574,215	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,668	S314R	probably damaging	Het
Apc	T	C	18: 34,310,909		probably null	Het
Atg9a	T	A	1: 75,185,991	Q460L	probably benign	Het
Birc3	C	T	9: 7,860,341	C292Y	probably damaging	Het
Capn5	T	C	7: 98,129,363	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,726,373		probably null	Het
Cdh22	T	A	2: 165,180,923	E76V	probably damaging	Het
Cdh8	T	C	8: 99,033,471		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,921,956		probably benign	Het
Cfap54	T	A	10: 92,884,768	D2608V	unknown	Het
Crebrf	T	C	17: 26,742,883	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,345	M136K	probably damaging	Het
Ddx10	A	G	9: 53,240,475		probably null	Het
Ddx47	A	G	6: 135,018,121	N92S	probably benign	Het
Ddx50	T	A	10: 62,640,464	H306L	probably benign	Het
Dnajc27	A	G	12: 4,097,317	T167A	possibly damaging	Het
Dscam	T	G	16: 97,038,920	K162N	probably benign	Het
Eif4h	G	A	5: 134,627,677	T53I	probably benign	Het
Elmo2	T	C	2: 165,298,279	N332S	probably benign	Het
Ergic3	A	G	2: 156,011,108	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,513,274	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,900,069	A151T	probably benign	Het
Foxf2	G	T	13: 31,626,141	R21L	unknown	Het
Gmip	T	A	8: 69,814,043	H269Q	probably benign	Het
Gng4	T	A	13: 13,806,166	V32E	probably benign	Het
Grm3	T	C	5: 9,589,793	Y84C	possibly damaging	Het
Helz2	C	T	2: 181,231,329	R2396H	probably benign	Het
Icosl	A	T	10: 78,071,953	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,814,058	N16K	probably benign	Het
Kcnt2	A	G	1: 140,553,018	M824V	probably damaging	Het
Mki67	T	A	7: 135,698,509	K1599*	probably null	Het
Mmp25	G	A	17: 23,640,242	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,976,084	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,917,158	K480M	probably damaging	Het
Npbwr1	T	A	1: 5,916,351	S315C	probably damaging	Het
Olfr1118	T	A	2: 87,309,448	S240T	probably benign	Het
Olfr1166	A	G	2: 88,124,547	L146P	probably damaging	Het
Olfr378	A	T	11: 73,425,239	V248E	probably damaging	Het
Olfr828	G	A	9: 18,815,505	S263L	probably benign	Het
Pard3b	A	T	1: 62,144,891	E183D	probably benign	Het
Pde10a	G	A	17: 8,929,091		probably null	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695		probably benign	Het
Rc3h2	T	A	2: 37,389,753	K461*	probably null	Het
Reep2	C	T	18: 34,845,621	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,340,810	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,770	F708I	possibly damaging	Het
Robo2	G	A	16: 73,933,115	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,389,535	V112I	probably benign	Het
Sec16a	A	C	2: 26,439,080	S974R	probably benign	Het
Sfrp5	A	G	19: 42,198,836	M265T	probably benign	Het
Skint7	T	C	4: 111,984,850	I305T	probably benign	Het
Slc6a7	T	C	18: 61,001,641	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,081,489	I407T	probably damaging	Het
Slfn8	A	T	11: 83,004,150	M610K	probably damaging	Het
Spidr	A	G	16: 16,048,049	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,366,419	W2034*	probably null	Het
Stard9	T	A	2: 120,664,945	F100L	possibly damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stc1	T	C	14: 69,031,647		probably null	Het
Sun2	T	C	15: 79,726,624	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,731,550	S511P	probably damaging	Het
Tasp1	T	G	2: 139,977,678	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,628,655	F501L	probably damaging	Het
Tgds	A	G	14: 118,130,656	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 89,104,166	T860I	probably benign	Het
Twf1	C	T	15: 94,585,447		probably null	Het
Vangl1	A	G	3: 102,163,466	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,477,644	I263T	probably damaging	Het
Washc5	A	G	15: 59,341,155	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,263,890	C302R	probably damaging	Het
Zfp395	A	G	14: 65,388,885	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,492,216	L302P	probably damaging	Het

Other mutations in Nbn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00833:Nbn	APN	4	15964320	missense	probably benign	0.01
IGL00921:Nbn	APN	4	15963833	missense	possibly damaging	0.85
IGL01621:Nbn	APN	4	15965221	missense	probably benign	0.45
IGL02372:Nbn	APN	4	15986613	missense	probably benign	0.00
IGL03392:Nbn	APN	4	15962362	missense	probably damaging	1.00
nebish	UTSW	4	15965132	critical splice acceptor site	probably null
zenobia	UTSW	4	15969391	missense	probably damaging	1.00
R0238:Nbn	UTSW	4	15986672	splice site	probably benign
R0244:Nbn	UTSW	4	15979353	missense	probably benign	0.00
R0432:Nbn	UTSW	4	15983951	unclassified	probably benign
R0946:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1076:Nbn	UTSW	4	15970719	critical splice acceptor site	probably null
R1563:Nbn	UTSW	4	15981668	missense	possibly damaging	0.77
R1579:Nbn	UTSW	4	15964289	missense	probably damaging	0.99
R1660:Nbn	UTSW	4	15971771	missense	probably benign	0.06
R1663:Nbn	UTSW	4	15970903	missense	probably benign	0.13
R2010:Nbn	UTSW	4	15969393	missense	probably damaging	1.00
R2077:Nbn	UTSW	4	15979389	missense	probably damaging	1.00
R2228:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2229:Nbn	UTSW	4	15970904	missense	probably benign	0.01
R2356:Nbn	UTSW	4	15970863	missense	probably damaging	0.96
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R2869:Nbn	UTSW	4	15963810	missense	probably damaging	1.00
R3508:Nbn	UTSW	4	15962387	missense	probably damaging	1.00
R3745:Nbn	UTSW	4	15976163	missense	possibly damaging	0.67
R3753:Nbn	UTSW	4	15964269	missense	probably damaging	0.98
R4756:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R5042:Nbn	UTSW	4	15981446	missense	probably benign	0.10
R5177:Nbn	UTSW	4	15965132	critical splice acceptor site	probably null
R5229:Nbn	UTSW	4	15963893	missense	probably damaging	0.98
R5368:Nbn	UTSW	4	15969391	missense	probably damaging	1.00
R5431:Nbn	UTSW	4	15986593	missense	probably benign
R6025:Nbn	UTSW	4	15981347	missense	probably damaging	0.97
R6375:Nbn	UTSW	4	15979327	missense	probably benign
R6543:Nbn	UTSW	4	15986605	missense	probably benign	0.39
R6655:Nbn	UTSW	4	15981696	missense	probably damaging	0.98
R6965:Nbn	UTSW	4	15970863	missense	probably benign	0.25
R7090:Nbn	UTSW	4	15981350	missense	probably benign	0.06
R7159:Nbn	UTSW	4	15983677	splice site	probably null
R7241:Nbn	UTSW	4	15991190	missense	probably benign	0.00
R7267:Nbn	UTSW	4	15979320	missense	probably benign	0.00
R7597:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R7937:Nbn	UTSW	4	15958080	missense	probably damaging	0.99
R8110:Nbn	UTSW	4	15981588	missense	probably benign	0.02
R8317:Nbn	UTSW	4	15970893	missense	probably damaging	0.96
R8327:Nbn	UTSW	4	15981470	missense	probably benign	0.00
R8725:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8727:Nbn	UTSW	4	15963911	missense	probably damaging	1.00
R8747:Nbn	UTSW	4	15981555	missense	probably damaging	0.96
R8909:Nbn	UTSW	4	15970833	missense	probably damaging	1.00
R8973:Nbn	UTSW	4	15986585	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGACTGGAACAAAGCTC -3'
(R):5'- AGAGAGAACTGACACCTTCTAGC -3'

Sequencing Primer
(F):5'- CTGGAACAAAGCTCTAGGAAACTTTC -3'
(R):5'- AGAACTGACACCTTCTAGCTATCTTC -3'

Posted On

2014-08-25